A missense mutation in Lama3 causes androgen alopecia.

Hair loss disorders such as androgenetic alopecia have caused serious disturbances to normal human life. Animal models play an important role in exploring pathogenesis of disease and evaluating new therapies. NIH hairless mice are a spontaneous hairless mouse discovered and bred in our laboratory. In this study, we resequenced the genomes of NIH normal mice and NIH hairless mice and obtained 3,575,560 high-quality, plausible SNP loci and 995,475 InDels. The Euclidean distance algorithm was used to assess the association of SNP loci with the hairless phenotype, at a threshold of 0.62. Two regions of chromosome 18 having the highest association with the phenotype contained 345 genes with a total length of 13.98 Mb. The same algorithm was used to assess the association of InDels with the hairless phenotype at a threshold of 0.54 and revealed a region of 25.45 Mb in length, containing 518 genes. The mutation candidate gene Lama3 (NM_010680.2: c.652C>T; NP_034810.1: p. Arg217Cys) was selected based on the results of functional gene analysis and mutation prediction screening. Lama3 (R217C) mutant mice were further constructed using CRISPR/Cas9 technology, and the relationship between Lama3 point mutations and the hairless phenotype were clarified by phenotypic observation. The results showed that male Lama3 point mutation mice started to lose hair on the 80th day after birth, and the hair loss area gradually expanded over time. H&E staining of skin sections showed that the point mutation mice had increased sebaceous glands in the dermis and missing hair follicle structure (i.e., typical symptoms of androgenetic alopecia). This study is a good extension of the current body of knowledge about the function of Lama3, and the constructed Lama3 (R217C) mutant mice may be a good animal model for studying androgenetic alopecia.

Trigger finger at the wrist caused by an intramuscular lipoma within the carpal tunnel: A case report.

BACKGROUND: Trigger finger at the wrist, which occurs with finger movement, is an uncommon presentation. Few reports describing cases of trigger finger at the wrist have been published. Thus, we present a case of an intramuscular lipoma arising from an anomalous flexor digitorum muscle belly in a 48-year-old female patient causing painful finger triggering at the wrist and carpal tunnel syndrome (CTS). CASE SUMMARY: A 48-year-old woman with complaints of a catching sensation during wrist motion and a progressive tingling sensation on the palmar aspect of the right hand for approximately 2 years was referred to our hospital. Triggering of the index to middle finger was evident with a palpable and audible clunk over the carpal tunnel during passive motion. Tinel's sign was positive over the carpal tunnel of the right wrist with a positive Phalen's test. Nerve conduction studies of the median nerve demonstrated a right CTS. Ultrasound examination revealed a 2.5 cm × 2.0 cm subcutaneous hyperechoic mass with no obvious blood flow at the wrist of the right arm. Surgical excision of the tumor and muscle mass led to a resolution of the patient's symptoms, and any triggering or discomfort disappeared. The patient has had no evidence of recurrence at more than 1 year of follow-up. CONCLUSION: Triggering of the fingers at the wrist is rare. It must be noted that there are many possible causes and types of triggering or clicking around the wrist. Accurate diagnosis is mandatory to avoid inaccurate treatment of patients with trigger wrist. During the diagnosis and treatment of CTS, attention should be paid to the variation of tendon tissue in the carpal tunnel, to avoid only focusing on the release of transverse carpal ligament and ignoring the removal of anomalous muscle belly.

Silencing circRNA_001937 may inhibit cutaneous squamous cell carcinoma proliferation and induce apoptosis by preventing the sponging of the miRNA­597­3p/FOSL2 pathway.

Circular RNAs (circRNAs) are reported to be aberrantly expressed and perform different functions in numerous types of tumor; however, their expression levels in cutaneous squamous cell carcinoma (CSCC) remain largely unclear. Thus, the purpose of the present study was to investigate the function of circRNA_001937 in CSCC. Differential circRNA expression profiles of CSCC were analyzed using the Arraystar Human circRNAs chip and reverse transcription­quantitative PCR (RT­qPCR); and the effects of circRNA_001937 on cell behavior, in particular its regulation over the microRNA (miRNA)­597­3p/Fos­related antigen 2 (FOSL2) pathway, was investigated using a dual­luciferase reporter assay, and verified using RT­qPCR and western blotting. circRNA_001937 expression levels were significantly increased in CSCC tissues and cell lines compared with the corresponding adjacent tissues and control cells (P<0.05). The genetic silencing of circRNA_001937 with small interfering RNA significantly inhibited cell proliferation, and induced cell apoptosis (P<0.05). circRNA_001937 was observed to directly bind to miRNA­597­3p and serve as a sponge, which indirectly increased the expression levels of FOSL2, a miRNA­597­3p target gene. In conclusion, circRNA_001937 expression was increased in CSCC and silencing circRNA_001937 gene expression may inhibit CSCC progression by sponging the miRNA­597­3p/FOSL2 pathway.

DDX46 silencing inhibits cell proliferation by activating apoptosis and autophagy in cutaneous squamous cell carcinoma.

DEAD­Box Helicase 46 (DDX46) is an ATP­dependent RNA helicase that plays a central role in transcription splicing and ribosome assembly. However, the role of DDX46 in cutaneous squamous cell carcinoma (CSCC) remains to be elucidated. The aim of the present study was to investigate the role of DDX46 in CSCC by assessing DDX46 expression levels in CSCC tissues and cell lines. The effect of DDX46 silencing on CSCC cell proliferation, apoptosis and autophagy were also analyzed. It was demonstrated that DDX46 was significantly overexpressed in CSCC tissues and cells (P<0.05). Furthermore, it was found that DDX46 silencing could dramatically inhibit cell proliferation (P<0.05). Moreover, cell apoptosis and autophagy were activated in DDX46 silencing groups (P<0.05). Therefore, the present results suggested that DDX46 was overexpressed in CSCC and that DDX46 silencing can inhibit cell proliferation by inducing apoptosis and activating autophagy. Thus, DDX46 may serve as a novel potential therapeutic target for CSCC.

Discrimination of Chinese Baijiu grades based on colorimetric sensor arrays.

In this study, a novel colorimetric sensor array based on chemo dyes including porphyrins and pH indicators were developed to analyse the volatile organic compounds of Chinese Baijiu with different grades. Ethyl acetate, ethyl butyrate and ethyl caproate appeared by significantly different concentration in different Baijiu grades measuring by gas chromatography and mass spectrometry and they were chosen as characteristic volatile organic components. The olfactory visualization system based on colorimetric sensor arrays was used to identify different Baijiu grades. The data were processed by building the principle components analysis, linear discriminant analysis and K-nearest neighbor classification models with the results of sensory evaluation and olfactory visualization system. This work presents a new-style colorimetric sensor using sensitive chemo dyes which has significant potential in quantitative analysis of volatile organic compounds, afterwards identifying different grades of Baijiu.

Role of CPEB3 protein in learning and memory: new insights from synaptic plasticity.

The cytoplasmic polyadenylation element-binding (CPEB) protein family have demonstrated a crucial role for establishing synaptic plasticity and memory in model organisms. In this review, we outline evidence for CPEB3 as a crucial regulator of learning and memory, citing evidence from behavioral, electrophysiological and morphological studies. Subsequently, the regulatory role of CPEB3 is addressed in the context of the plasticity-related proteins, including AMPA and NMDA receptor subunits, actin, and the synaptic scaffolding protein PSD95. Finally, we delve into some of the more well-studied molecular mechanisms that guide the functionality of this dynamic regulator both during synaptic stimulation and in its basal state, including a variety of upstream regulators, post-translational modifications, and important structural domains that confer the unique properties of CPEB3. Collectively, this review offers a comprehensive view of the regulatory layers that allow a pathway for CPEB3's maintenance of translational control that guides the necessary protein changes required for the establishment and maintenance of lasting synaptic plasticity and ultimately, long term learning and memory.

K-19 mRNA RT-PCR in detecting micrometastasis in regional lymph nodes of gastric cancer.

AIM: To investigate the value and prospect of RT-PCR in detecting micrometastasis in regional lymph nodes of gastric cancer. METHODS: Histopathology was used and K19 mRNA expression was detected by RT-PCR in tumor tissues and lymph nodes from gastric cancer patients undergoing radical resection of gastric carcinoma. RESULTS: K19 mRNA was expressed in all tumor specimens of 30 cases; of the 126 lymph nodes, 26 were histopathologically positive (20.6%), and 42 positive (33.3%) by RT-PCR. Amplification fragments of 460 and 540 bp were shown in all the tumor tissues and metastatic lymph nodes after K19 and beta-actin RT-PCR, while only a 540 bp fragment appeared in the lymph nodes of non-tumor patients. CONCLUSION: K19 mRNA RT-PCR is sensitive and specific in testing micrometastasis in regional lymph nodes of gastric cancer, and it is superior to routine histopathology.